Evaluate the ENPP1 Deficiency and Early-Onset form of ABCC6 Deficiency
Research type
Research Study
Full title
A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects with ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency
IRAS ID
302674
Contact name
Amish Chinoy
Contact email
Sponsor organisation
Inozyme Pharma, Inc.
Clinicaltrials.gov Identifier
Duration of Study in the UK
1 years, 9 months, 28 days
Research summary
This observational study will enrol all eligible patients with ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency who consent/assent to participate, to give approximately 30 patients from birth through adulthood (infant, child and adult populations). The study will prospectively gather information about the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency.
ENPP1 Deficiency is a rare genetic disorder caused by a deficiency in the ENPP1 enzyme which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential to prevent soft tissue calcium deposits. Infants with ENPP1 Deficiency have high mortality in the first 6 months of life, and children and adults with ENPP1 Deficiency experience on-going risk for organ calcification and dysfunction, rickets, and softening of the bone in adulthood with severe bone and joint pain and fatigue, giving a poor quality of life and function. No targeted therapy exists for this disease.
Similar to ENPP1 Deficiency, ABCC6 Deficiency is a disorder of pathological calcification that manifests in a spectrum of phenotypes. A rare form resembles the acute infantile form of ENPP1 Deficiency and has thus been called Generalized Arterial Calcification of Infancy type 2 (GACI 2). Diagnosis can occur during infancy prior to genetic confirmation where patients with early-onset form of ABCC6 Deficiency present with an acute calcification phenotype.This study will observe how the disease progresses through blood and urine tests, physical assessments, imaging, and other medical tests. The study is planned to run for about 22 months from start to finish. This study has 2 parts, a Screening Period with Baseline Visit for approximately up to 28 day followed by the Observation Period of between 12 and 22 months. Participants will continue to receive standard medical care from their regular doctor for their disorder while they are in this study.
REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
21/LO/0882
Date of REC Opinion
27 Apr 2022
REC opinion
Further Information Favourable Opinion